BRAF V600E和TERT启动子突变与甲状腺乳头状癌临床病理特征的关系  

BRAF V600E Mutation and TERT Promoter Mutation in Papillary Thyroid Carcinomas and Their Association with Clinicopathological Characteristics

作　　者：杨钿 陈昶 潘南方 孙林雍 江小林 李金男[1] 唐源[1] 姜勇[1] YANG Tian;CHEN Chang;PAN Nan-fang;SUN Lin-yong;JIANG Xiao-lin;LI Jin-nan;TANG Yuan;JIANG Yong(Department of Pathology,West China Hospital,Sichuan University,Chengdu 610041,China;West China School of Medicine,Sichuan University,Chengdu 610041,China)

机构地区：[1]四川大学华西医院病理科,成都610041 [2]四川大学华西临床医学院,成都610041

出　　处：《四川大学学报（医学版）》2019年第6期919-924,共6页Journal of Sichuan University(Medical Sciences)

基　　金：四川省科技厅项目（No.2018HH0037）;四川大学“大学生创新创业训练计划”（No.C 2019104717）资助

摘　　要：目的探讨鼠类肉瘤滤过性毒菌致癌同源体B1(BRAF)V600E和端粒酶逆转录酶(TERT)启动子突变与甲状腺乳头状癌(PTC)临床病理特征之间的关系。方法采用聚合酶链式反应(PCR)直接测序检测326例PTC患者肿瘤组织的BRAF V600E和TERT启动子的突变情况,并分析其与临床病理特征之间的关系。结果 BRAFV600E突变率为82.52%(269/326),TERT启动子突变率为3.37%(11/326),其中C228T位点突变9例,C250T位点突变2例,BRAF V600E和TERT启动子同时突变者10例(3.07%)。单因素分析结果显示BRAF V600E基因突变与PTC患者年龄及是否肿瘤复发/远处转移有关(P<0.05),TERT启动子突变与患者年龄、肿瘤最大径、是否甲状腺腺外侵犯、T分期、AJCC分期及是否肿瘤复发/远处转移有关(P<0.05)。BRAF V600E和TERT启动子同时突变与患者年龄、肿瘤最大径、是否甲状腺腺外侵犯、T分期及AJCC分期有关(P<0.05)。结论 PTC患者肿瘤组织BRAF V600E和TERT启动子同时突变时提示肿瘤侵袭性高。Objective To explore the relationships of BRAF V600 E and TERT promoter mutations with the clinicopathological features in papillary thyroid carcinoma(PTC). Methods The mutations of BRAF V600 E and TERT promoters were examined by PCR-direct sequencing in tumor tissues from 326 PTC patients, while the relationships between the gene mutations and clinicopathological features were analyzed. Results BRAF V600 E mutation was found in 269/326(82.52%), and TERT promoter mutation in 11/326(3.37%) of PTC patients. In site mutations of TERT promoter, 9 cases were C228 T and 2 cases were C250 T. Single factor analysis showed that BRAF V600 E mutations were significantly associated with age and recurrence/distant metastasis of tumor(P<0.05),while TERT promoter mutations were significantly associated with age, tumor size, extrathyroidal extension, T stage, AJCC stage and recurrence/distant metastasis of tumor(P<0.05). Coexistence of BRAF V600 E and TERT promoter mutations(BRAF^+/TERT^+) were particularly associated with age, tumor size, extrathyroidal extension, T stage and AJCC stage(P<0.05). Conclusion Coexistence of BRAF V600 E and TERT promoter mutations in PTC shows more aggressive tumor behavior.

关 键 词：甲状腺乳头状癌 BRAF V600E突变 TERT启动子突变 临床病理特征 

分 类 号：R73[医药卫生—肿瘤]